ICYMI: Newcastle Scientists Identify a Gene that Plays a role in Joubert Syndrome


According to a recent article in the UK Newcastle Chronicle, when doctors gave Leanne Buckley an opportunity to terminate both her pregnancies, Leanne and her husband Michael were emphatic that they wanted to give their babies every chance in life.

It was not an easy decision. Both fetuses at their 20-week scan were suspected of having a severe inherited kidney disease. They were told that either of their children may develop a rare and complex disorder called Joubert syndrome.

Several years later Leanne and her husband, who reside in Whitley Bay, North Tyneside, UK, discovered that they were both carriers of the Joubert syndrome gene. They eventually learned that both children had Joubert syndrome.

When Emma was born, her condition was so serious that she was given blessings by a priest because she wasn’t expected to live. She survived after being put on an oscillation device. Emma was finally released from the hospital and brought home to her family.

Eventually, the siblings were put on dialysis for several years and needed kidney transplants. Emma’s father donated his kidney to her, but Leanne did not qualify as a donor. Ben received his kidney from a deceased donor.

Now Emma, at age eleven, and Ben, age nine, are confined to wheelchairs and need twenty-four hour care.

About Joubert Syndrome

Joubert syndrome affects approximately one in eighty thousand infants. The disease causes various levels of physical, visual and mental impairments. There is often an association with severe kidney disease requiring eventual dialysis and kidney transplant.

It is a rare autosomal recessive disorder (from both parents). Joubert syndrome is identified by the absence of the connective tissue in the part of the brain that controls coordination and balance.

It is also characterized by a malformed brain stem which is the connection between the spinal cord and the brain. This causes serious muscle weakness and irregularity in breathing.


The symptoms vary within a range of medical issues including kidney or liver disease, skeletal abnormalities, hormonal problems, communication issues, developmental issues, and possible vision loss.

Emma and Ben have a full range of symptoms which include communication problems, developmental delay, and visual impairment.

However, their parents are encouraged by their progress and feel that in general they are healthy.

A Major Breakthrough

Emma and Ben made medical history when their parents agreed to allow Newcastle scientists to study the progression of their children’s disease. The scientists eventually identified a long-suspected modifier gene.

The researchers were aware that these modifier genes exist but until now they had not been found in rare genetic conditions.

The newly discovered modifier gene is called BSND. The gene has a direct effect on the severity of Joubert syndrome kidney disorders in people with CEP290 mutations.

The scientists have now determined that symptoms of Joubert syndrome are contingent upon the genetic makeup of each individual. Therefore, a patient’s response to treatment may vary.

Professor Sayer at Newcastle University who led the study said that this is the first time researchers were able to give an explanation for the difference in disease progression in patients with Joubert syndrome.

The discovery leads the way to a therapy that will switch on the protective modifier gene, thus reducing the effects of genetic kidney disease.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

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